Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.N754S
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CACNA1D

NM_001128840.3:p.N754S

Associated Papers

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Biochemical, Histopathological, and Genetic Characterization of Posture-Responsive and Unresponsive APAs.

Guo Z et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."